The Cooperative Health Research in South Tyrol (CHRIS) study: rationale, objectives, and preliminary results

被引：79

作者：

Pattaro, Cristian ^{[1
]}

Goegele, Martin ^{[1
]}

Mascalzoni, Deborah ^{[1
]}

Melotti, Roberto ^{[1
]}

Schwienbacher, Christine ^{[1
]}

De Grandi, Alessandro ^{[1
]}

Foco, Luisa ^{[1
]}

D'Elia, Yuri ^{[1
]}

Linder, Barbara ^{[1
]}

Fuchsberger, Christian ^{[1
]}

Minelli, Cosetta ^{[2
]}

Egger, Clemens ^{[1
]}

Kofink, Lisa S. ^{[1
]}

Zanigni, Stefano ^{[3
]}

Schaefer, Torsten ^{[4
]}

Facheris, Maurizio F. ^{[5
]}

Smarason, Sigurour V. ^{[1
]}

Rossini, Alessandra ^{[1
]}

Hicks, Andrew A. ^{[1
]}

Weiss, Helmuth ^{[1
,6
]}

Pramstaller, Peter P. ^{[1
,7
,8
]}

机构：

[1] Med Univ Lubeck, D-23538 Lubeck, Germany

[2] Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, Resp Epidemiol Occupat Med & Publ Hlth, London, England

[3] Univ Bologna, Dept Biomed & Neuromotor Sci, Policlin S Orsola, Funct MR Unit, Bologna, Italy

[4] Dermatol Practice, D-87059 Immenstadt, Germany

[5] Michael J Fox Fdn Parkinsons Res, New York, NY USA

[6] Hosp Schlanders Silandro, Schlanders Silandro, Italy

[7] Cent Hosp, Dept Neurol, Bolzano, Italy

[8] Med Univ Lubeck, Dept Neurol, D-23538 Lubeck, Germany

来源：

JOURNAL OF TRANSLATIONAL MEDICINE | 2015年 / 13卷

关键词：

HEART-RATE-VARIABILITY; METABOLIC SYNDROME; ISOLATED POPULATION; BEHAVIOR DISORDER; PREVALENCE; QUESTIONNAIRE; PATTERNS; DISEASE; EUROPE; VALIDATION;

D O I：

10.1186/s12967-015-0704-9

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

The Cooperative Health Research In South Tyrol (CHRIS) study is a population-based study with a longitudinal lookout to investigate the genetic and molecular basis of age-related common chronic conditions and their interaction with life style and environment in the general population. All adults of the middle and upper Vinschgau/Val Venosta are invited, while 10,000 participants are anticipated by mid-2017. Family participation is encouraged for complete pedigree reconstruction and disease inheritance mapping. After a pilot study on the compliance with a paperless assessment mode, computer-assisted interviews have been implemented to screen for conditions of the cardiovascular, endocrine, metabolic, genitourinary, nervous, behavioral, and cognitive system. Fat intake, cardiac health, and tremor are assessed instrumentally. Nutrient intake, physical activity, and life-course smoking are measured semi-quantitatively. Participants are phenotyped for 73 blood and urine parameters and 60 aliquots per participant are biobanked (cryo-preserved urine, DNA, and whole and fractionated blood). Through liquid-chromatography mass-spectrometry analysis, metabolite profiling of the mitochondrial function is assessed. Samples are genotyped on 1 million variants with the Illumina HumanOmniExpressExome array and the first data release including 4570 fully phenotyped and genotyped samples is now available for analysis. Participants' follow-up is foreseen 6 years after the first visit. The target population is characterized by long-term social stability and homogeneous environment which should both favor the identification of enriched genetic variants. The CHRIS cohort is a valuable resource to assess the contribution of genomics, metabolomics, and environmental factors to human health and disease. It is awaited that this will result in the identification of novel molecular targets for disease prevention and treatment.

引用

页数：16

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